Placental Insufficiency |
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Abnormal umbilical cord blood vessel morphology, Miscarriage, Proportionate short stature, Abnorm... |
ORPHA:439167 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... |
ORPHA:73272 |
Silver-Russell Syndrome Due To A Point Mutation |
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Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
Fetal Akinesia Deformation Sequence 1 |
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Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Neu-Laxova Syndrome 1 |
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Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Patent ductus ar... |
OMIM:256520 |
Meconium Aspiration Syndrome |
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Atelectasis, Pneumothorax, Postterm pregnancy, Premature rupture of membranes, Aspiration pneumon... |
ORPHA:70588 |
Mosaic Trisomy 16 |
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Premature birth, Large placenta, Patent ductus arteriosus, Abnormal lung morphology, Single umbil... |
ORPHA:1708 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hernia, Intrauterine grow... |
ORPHA:254528 |
Restrictive Dermopathy |
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Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... |
ORPHA:1662 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 29 |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 33 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Greenberg Dysplasia |
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Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... |
OMIM:215140 |
Bronchopulmonary Dysplasia |
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Premature birth, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
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Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Respiratory Distress Syndrome In Premature Infants |
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Atelectasis, Premature birth, Pulmonary edema |
OMIM:267450 |
Ciliary Dyskinesia, Primary, 21 |
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Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Kagami-Ogata Syndrome |
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Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
Restrictive Dermopathy 1 |
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Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... |
OMIM:275210 |
Trichohepatoenteric Syndrome 1 |
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Short stature, Polyhydramnios, Large placenta, Abnormalities of placenta or umbilical cord, Intra... |
OMIM:222470 |
Myotubular Myopathy With Abnormal Genital Development |
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Decreased fetal movement, Death in infancy, Polyhydramnios, Atelectasis, Neonatal death |
OMIM:300219 |
Infant Acute Respiratory Distress Syndrome |
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Premature birth, Pneumonia, Respiratory tract infection, Atelectasis, Pulmonary edema |
ORPHA:70587 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Breech presentation, Large placenta, Patent ductus arteriosus, Anencepha... |
OMIM:249000 |
C1Q Deficiency 2 |
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Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Acute Interstitial Pneumonia |
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Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Death in infancy, Atelectasis, Breech presentation, Recurrent pneumonia, Growth delay, Pulmonary ... |
OMIM:613177 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Asbestos Intoxication |
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Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Short stature, Premature birth, Polyhydramnios, Miscarriage, Postnatal growth retardation, Large ... |
ORPHA:96334 |
Familial Nasal Acilia |
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Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Short-Rib Thoracic Dysplasia 12 |
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Polyhydramnios, Atelectasis, Patent ductus arteriosus, Anencephaly, Pulmonary hypoplasia, Neonata... |
OMIM:269860 |
Bronchogenic Cyst |
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Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Recurrent Respiratory Papillomatosis |
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Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Umbilical hernia, Emphysema, Recurrent respiratory infections, Oligohydramnios |
OMIM:219100 |
Primary Ciliary Dyskinesia |
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Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
Beckwith-Wiedemann Syndrome |
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Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia |
ORPHA:116 |
Farber Disease |
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Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory tract ... |
ORPHA:333 |
Waardenburg Syndrome Type 3 |
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Atelectasis |
ORPHA:896 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
22Q11.2 Deletion Syndrome |
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Short stature, Polyhydramnios, Spina bifida, Atelectasis, Patent ductus arteriosus, Meningocele, ... |
ORPHA:567 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Pulmonary hypoplasia, Oligohy... |
ORPHA:536467 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Recurrent respiratory infections, Atelectasis, Hepatocellular necrosis, Pulmonary fibrosis, Death... |
OMIM:618278 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent respiratory infections, Death in infancy, Short stature, Atelectasis, Delayed puberty, ... |
ORPHA:534 |
Whim Syndrome |
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Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... |
ORPHA:538 |
Lujo Hemorrhagic Fever |
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Atelectasis |
ORPHA:319213 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Atelectasis, Recurrent lower respiratory tract infections |
ORPHA:258 |
Zygomycosis |
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Premature birth, Atelectasis, Pneumothorax, Acute infectious pneumonia, Pleural effusion |
ORPHA:73263 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Digeorge Syndrome |
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Short stature, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Recurrent sinusitis, U... |
OMIM:188400 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory tract infection, Atelectasis |
ORPHA:365 |
Chand Syndrome |
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Atelectasis |
ORPHA:1401 |
Relapsing Polychondritis |
|
Atelectasis |
ORPHA:728 |